And so it starts - at the beginning - the butterfly gets her wings

So, to know you have Turner's syndrome there has to be a start.  Someone (normally a doctor) makes a diagnosis.  But how do you prove that a girl has it?  What are the signs and symptoms?  When do girls get diagnosed?  In this post I am going to try and explain the various things at various stages in a girl's life which may lead to the diagnosis.

In utero
With modern technology more and more babies (yes they are babies in there, they are little lives, and for me that starts at conception) are found to have Turner Syndrome whilst still in the womb.   This is discovered when an amniocentesis (same test as used for Down's syndrome) shows that the karyotype is showing one complete X chromosome, and one wholly or partially absent one.  This is normally undertaken if excess fluid (oedema) is seen, or certain heart abnormalities are present, or the measurements of the neck crease are off.

This can be good.  This can mean that various heart complaints which are more common in Turner's Syndrome can be dealt with as soon after birth as reasonably practical.  It can mean that parents are given good information and prepared for issues their daughter may have when they arrive.  It can mean that support and information is given by the TSSS (U.K) or TSSUS, or other national organisation or charity.

But.......

It can also be.....

a death sentence.

All too often, even now, GOOD information and support is not there.  Unbiased, impartial advice is not offered, and is not asked for as the individuals involved are too confused, upset and don't know where to turn.  They trust the doctors, they believe what they are told.  And even in the western world with modern medicine, the picture that is painted is bleak.  Bleak enough that the doctors suggest the unthinkable, every parent-to-be's worse nightmare.  They suggest abortion.  They say the girl will have lots of medical problems.  They say that her quality of life will be impaired.  They say she will have learning difficulties.  They say she will not have her own children.  And they imply that all of this means that the girl should not be allowed to experience life.  That the parents should give up on her.  What they do NOT say, as they are ignorant and through no fault of their own clueless as they have probably never met an adult with TS, is that LOTS AND LOTS AND LOTS of women are living with Turner's syndrome, all over the world.  All these problems can and do occur in individuals without TS as well as those with it.  And none of these problems are insurmountable.  And that breaks my heart, that these little butterflies lose their lives, before they've even had a chance to live.  There needs to be A LOT more education of healthcare professionals around Turner's syndrome.  Us individuals out there living daily with it need to educate them, and be there for those parents to show them when they get this news that WE ARE NORMAL!!  Over a year ago I was honoured to meet a lady who went against the doctors.  Who did not give up on her daughter.  Whose daughter was born in a smaller hospital, not a larger one on the mainland, as labour happened just too fast (much to the dismay of the obstetrician who was on duty that night as he was adamant she would be born on the mainland, not with him, as he had advocated abortion!!!).  Who, despite finding out during pregnancy her daughter may need an operation to repair a heart defect shortly after birth, did not let that cause her to give up on her - and do you know what, she didn't even need that operation in the end and the defect was not as bad as was feared.  I am SO SO SO glad that we were able to meet this mother before the birth and since, and were able to help her, talk to her, be there with her and that I could be at that little girl's Christening celebrating the gift of her life which was given to her parents.

At birth
If not diagnosed in utero, many girls are diagnosed shortly after birth.  This is normally when some or other of the more common physical traits of Turner's syndrome are noticed by a well-educated healthcare professional.  These are generally the puffy hands and feet, short length, wide neck or broad chest.  One girl probably won't have every single one of these, and if you're not looking for them they're easy to miss.  But many girls are thankfully diagnosed at this point so that they and their families get the help and support they need.  I didn't have the lymphodoema myself, but what I did have was problems feeding and sucking which my Mum took me for help with, as another common Turner's trait is a high palette to the mouth.  Two and two were not put together in my case though.

In early childhood

Sooner or later, any girl with Turner's syndrome WILL fall off the "standard" growth chart, and start being noticeably smaller than her peers.  When this is enough to be noticed, and there is a sensible doctor around, karyotype is often taken and diagnosis confirmed then.  Or she might have recurrent ear infections, water infections (caused by kidney abnormalities) or heart problems.  In my case I think I was about average height until about Year 4 or 5 of primary school, and then everyone started shooting up and I didn't.  By the time I was 15, my 10-year-old sister was as tall as me and people were asking if we were twins!

In adolescence
From what I understand normal age range for beginning of puberty in girls is from about age 8 up to about 15/16.  Only 10% of girls will T.S will start their periods naturally.  And even then time is short, the ovaries could fail at anytime, and menopause WILL occur (ask the poor 16 year old from conference last year who's FSH is already starting to creep up but is still deemed too young for egg harvesting).  At 14, I wasn't too bothered.  By 17, something HAD to be wrong.  So off I went on the advice of my school friend who happened to have it and noticed my bendy arms, and a karyotype was undertaken, and yes she'd been right, T.S was the cause of my not undergoing puberty.  My FSH and LH were really high, but there was no oestrogen or progesterone production.  But at least now I could get oestrogen (at 17 years old my bone age had only progressed to 14, having never had any) and tests on my heart and kidneys to make sure there were no underlying medical problems.  Thankfully I didn't really have any of the medical problems I could have had, I've only recently had slightly faltering thyroid function.  Just as well I had tall parents, as being diagnosed at 17 it was a bit late for the growth hormone I could have had, but at just over 5' it's not too bad.

In adulthood with failure to conceive
Unbelievably a load of women still slip through the net and aren't diagnosed til their 30s, and there's even a Youtube video of a lady diagnosed in her 60s! (which I can't find now but if I do will link in).  Through the TSSS I know at least one married couple where the lady was diagnosed with T.S when she failed to conceive.  If you have few of the medical complications, and it's purely being a bit on the short side and not managing to get pregnant, the medics don't always put two and two together very well!

Whatever stage the diagnosis occurs, I think it's important that support is offered.  And not just the medical support, which I think, at least in the U.K, tends to be good.  It's the emotional aspects of it all, and dealing with it, as well, which I think can sometimes be lacking, at least in my experience.  Ideally the earlier the diagnosis the better, as proper monitoring can be started and continued, and the girl and family can get used to the situation.  I think it was bad enough at 17 suddenly finding out for me, but I can't imagine being in my 30s and suddenly finding out I had this condition that I'd had all my life!

Well that's what Turner's syndrome is, and that's how and why it gets picked up.  Any questions or comments please use the box.